Evidence map›Paper›PMID 42820192›Full record

ArticleAnnals of pediatric cardiology

A rare constellation: Interrupted aortic arch type C and confirmed 22q11 deletion (DiGeorge syndrome) managed with Yasui procedure in a neonate.

Mohammed A Radi, Ghassan A Shaath, Mohammed H A Mohammed, Abdullah A Alghamdi

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In one paragraph

Article in Annals of pediatric cardiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Mohammed A RadiPediatric Cardiac Intensive Care Unit Division, King Abdulaziz Cardiac Science Center, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Ghassan A ShaathPediatric Cardiac Intensive Care Unit Division, King Abdulaziz Cardiac Science Center, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Mohammed H A MohammedPediatric Cardiology Division, King Abdulaziz Cardiac Science Center, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Abdullah A AlghamdiKing Saud Abdulaziz University, KSAU-Health Sciences University, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Interrupted aortic arch (IAA) type C is a rare and complex congenital heart anomaly. DiGeorge syndrome (22q11.2 deletion) is commonly associated with conotruncal anomalies, notably IAA type B, but its association with IAA type C is exceptional. There is only a limited number of reported cases in the literature. Here, we present a case of a full-term neonate diagnosed with IAA type C and confirmed to have 22q11.2 deletion syndrome. It was managed successfully with a Yasui procedure. Our case highlights the critical importance of genetic screening for early diagnosis and the necessity of a proper multidisciplinary team approach. Prompt surgical intervention in these patients is life-saving.

Indexed as

22q11.2 deletion syndromecongenital heart diseaseDiGeorge syndromeinterrupted aortic archYasui procedure

Identifiers

PMID42820192
PMCPMC13626605

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.